Medical genetics

Learners enrolled in all healthcare training programs need to have a basic understanding
of medical genetics so that they can successfully transition from students to clinicians.
The field of medical genetics is advancing at a fast pace and is becoming increasingly integral
to all aspects of medicine. This fact emphasizes the need for every practicing clinician
and faculty member to develop an in-depth knowledge of the principles of human genetics,
given that they are applicable to such a wide variety of clinical presentations.

Readable, well organized, and easy to use, this outstanding encyclopedia signifies a timely and major advance in providing in-depth and comprehensive coverage of medical genetics for the lay reader. The two volumes include nearly 400 substantive entries on genetic diseases and conditions as well as information on basic genetics concepts such as DNA, chromosomes, genetic testing, and pedigree analysis and construction (genetic family history).

The speciality of medical genetics is concerned with the study
of human biological variation and its relationship to health and
disease. It encompasses mechanisms of inheritance,
cytogenetics, molecular genetics and biochemical genetics as
well as formal, statistical and population genetics. Clinical
genetics is the branch of the specialty involved with the
diagnosis and management of genetic disorders affecting
individuals and their families.

This is a book about medical genomics, a new field that is
attempting to combine knowledge generated from the Human
Genome Project (HGP) and analytic methods from bioinformatics
with the practice of medicine. From my perspective as
a research molecular biologist, genomics has emerged as a result
of automated high-throughput technologies entering the molecular
biology laboratory and of bioinformatics being used to
process the data.

The field of medical genetics has traditionally focused on chromosomal abnormalities (Chap. 63) and Mendelian disorders (Chap. 62). However, there is genetic susceptibility to many common adult-onset diseases, including atherosclerosis, cardiac disorders, asthma, hypertension, autoimmune diseases, diabetes mellitus, macular degeneration, Alzheimer's disease, psychiatric disorders, and many forms of cancer.

For the Seventh Edition of this text, the title has been changed to Kistner's Gynecology
and Women's Health (from Kistner's Gynecology) to recognize the broad scope and
expanded interest in the field of women's health care. Although over the past 35 years,
previous editions of Kistner have appealed largely to students, trainees, and
practitioners in gynecology, this new edition should be useful not only for gynecologists
but for internists, family practitioners, and women's health specialists who are devoting
more of their time and effort to women's medical issues.

(BQ) Part 1 book "Guyton and hall: Textbook of medical physiology" presents the following contents: Functional organization of the human body and control of the “internal environment”; the cell and its functions, genetic control of protein synthesis, cell function, and cell reproduction,... Invite you to consult.

Population Screening Mass genetic screening programs require tests of high enough sensitivity and specificity to be cost-effective. An effective screening program should fulfill the following criteria: that the tested disorder is prevalent and serious; that it can be influenced presymptomatically through lifestyle changes, screening, or medications; and that identification of risk does not result in undue discrimination or harm.

Follow-Up Care after Testing Depending on the nature of the genetic disorder, posttest interventions may include (1) cautious surveillance and appropriate health care screening, (2) specific medical interventions, (3) chemoprevention, (4) risk avoidance, and (5) referral to support services. For example, patients with known pathologic mutations in BRCA1 or BRCA2 are offered intensive screening as well as the option of prophylactic mastectomy and oophorectomy.

Recall of family history is often inaccurate. This is especially so when the history is remote and families become more dispersed geographically. It can be helpful to ask patients to fill out family history forms before or after their visits, as this provides them with an opportunity to contact relatives. Attempts should be made to confirm the illnesses reported in the family history before making important and, in certain circumstances, irreversible management decisions.

Since the first edition of this book in 1989 there have been enormous changes in clinical genetics, reflecting the
knowledge generated from the tremendous advances in molecular biology, culminating in the publication of the first
draft of the human genome sequence in 2001, and the dissemination of information via the internet. The principles
of genetic assessment and the aims of genetic counselling have not changed, but the classification of genetic disease
and the practice of clinical genetics has been significantly altered by this new knowledge....

Harrison's Internal Medicine Chapter 62. Principles of Human Genetics
Impact of Genetics on Medical Practice
Impact of Genetics on Medical Practice: Introduction
The beginning of the new millennium was marked by the announcement that the vast majority of the human genome had been sequenced. This milestone in the exploration of the human genome was preceded by numerous conceptual and technological advances.

The beginning of the new millennium was marked by the announcement that the vast majority of the human genome had been sequenced. This milestone in the exploration of the human genome was preceded by numerous conceptual and technological advances. They include, among others, the elucidation of the DNA double-helix structure, the discovery of restriction enzymes and the polymerase chain reaction (PCR), the development and automatization of DNA sequencing, and the generation of genetic and physical maps by the Human Genome Project (HGP).

Cerebral cavernous malformations (CCM) are vascular lesions which can
occur as a sporadic (80% of the cases) or familial autosomal dominant
form (20%). Three CCM genes have been identified: CCM1⁄KRIT1,
CCM2⁄MGC4607and CCM3⁄PDCD10. Almost 80% of CCM patients
affected with a genetic form of the disease harbor a heterozygous germline
mutation in one of these three genes.